Variant position: 415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 558 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KEESVKLFRGVKKMGGEEFS RRYLQQLESEIDELYIQYIKH
Mouse KEESVKLFRGVKKMGGEEFS RRYLQQLESEIDELYIQYIKH
Rat KEDSVKLFRGVKKMGGEEFS RRYLQQLESEIDELYIQYIKH
Bovine KEESVKLFRGVKKMGGEEFS RRYLQQLETEIDELYIQYIKH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 558 Atlastin-1
1 – 449 Cytoplasmic
412 – 439
395 – 395 N6-acetyllysine
398 – 398 S -> Y. Affects endoplasmic reticulum and Golgi morphology.
410 – 437
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
D'Amico A.; Tessa A.; Sabino A.; Bertini E.; Santorelli F.M.; Servidei S.;
Cited for: VARIANT SPG3 TRP-415;
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG3 GLU-154; CYS-239; ILE-253; VAL-413; TRP-415; THR-440 AND TRP-495;
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga R.E.; Schuele R.; Fadel H.; Valenzuela I.; Speziani F.; Gonzalez M.; Rudenskaia G.; Nuernberg G.; Thiele H.; Altmueller J.; Alvarez V.; Gamez J.; Garbern J.Y.; Nuernberg P.; Zuchner S.; Beetz C.;
Hum. Mutat. 34:860-863(2013)
Cited for: VARIANTS SPG3 GLN-415 AND TRP-415;
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